Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type(#)

Methylmalonic aciduria and homocystinuria, cblC type, is the most common disorder of intracellular vitamin B12 (cobalamin, cbl) metabolism, which results in impaired biosynthesis of methylcobalamin and adenosylcobalamin. The gene MMACHC responsible for the cblC type had been identified, which enable...

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Xehetasun bibliografikoak
Argitaratua izan da:Int J Clin Exp Pathol
Egile Nagusiak: Wang, Jun, Li, Erzhen, Wang, Liwen, Wang, Zhilong, Yang, Shenghai, Zhou, Qiao, Chen, Qian
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: e-Century Publishing Corporation 2015
Gaiak:
Original Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4583918/
https://ncbi.nlm.nih.gov/pubmed/26464686
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